A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3589311



Internal ID12172557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:197206..197206hg38UCSC Ensembl
chr12:306372..306372hg19UCSC Ensembl
chr12:176633..176633hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3864
hg1964
hg1864
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1501218
Supporting Variants
SamplesHuRef
Known GenesSLC6A12
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3589311
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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